P42Q (p.Pro42Gln) variant of SRD5A2 (P31213)
P42Q (p.Pro42Gln) in SRD5A2 (P31213) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P42Q (p.Pro42Gln) variant details
- p.Pro42Gln
- ExAC rs750200112
- gnomAD rs750200112
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 15.50
- PolyPhen-2 0.31
- SIFT 0.05
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available